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Human Disease

epithelial-stromal TGFBI dystrophy

Term ID
DOID:0060441
Synonyms
Definition
A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q. https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm
References
Ontology
Human Disease   ( DOID:0060441 )
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